Genetic Counseling
Textbook Exam Questions
Course Introduction
Genetic Counseling is a course designed to introduce students to the principles and practices of genetic counseling within healthcare settings. The course covers the fundamentals of human genetics, risk assessment, inheritance patterns, and the psychosocial implications of genetic testing and diagnosis. Students will explore ethical, legal, and cultural considerations, as well as strategies for effective communication with individuals and families about genetic conditions. Through case studies and role-playing exercises, students will develop skills in gathering family histories, interpreting genetic information, and providing empathetic support to patients as they navigate complex health decisions.
Recommended Textbook
Emerys Elements of Medical Genetics 14th Edition by Peter Turnpenny
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24 Chapters
149 Verified Questions
149 Flashcards
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Chapter 1: The History and Impact of Genetics in Medicine
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Sample Questions
Q1) Which of the following can be used to determine the potential genotypes of offspring from a simple Mendelian cross?
A) Punnett square
B) Hardy-Weinberg equilibrium
C) Bayesian analysis
D) Law of independent assortment
E) Rules of probability
Answer: A
Q2) Which of the following causes deviations from the law of independent assortment?
A) The genes of interest are on the same chromosome
B) The genes of interest are linked
C) Homologous recombination between genes
D) Nonhomologous recombination
E) Nondisjunction
Answer: B
Q3) Which of the following is generally true for genetic diseases?
A) The incidence is less than the prevalence
B) The incidence is greater than the prevalence
C) The incidence equals the prevalence
Answer: B
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Chapter 2: The Cellular and Molecular Basis of Inheritance
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Sample Questions
Q1) Disease-causing trinucleotide repeat expansions are found in which part of a gene?
A) 5' UTR
B) Coding region
C) Intron
D) 3' UTR
E) All of the above
Answer: E
Q2) Which of the following are sequences that closely resemble other genes but are not themselves functionally expressed?
A) Introns
B) Pseudogenes
C) Satellite DNA
D) Tandem repeats
E) Junk DNA
Answer: B
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Chapter 3: Chromosomes and Cell Division
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Sample Questions
Q1) The significance of a Robertsonian translocation is which of the following?
A) The loss of the sequences in the p arms of the involved chromosomes
B) Inability of the involved chromosomes to recombine
C) The risk of an unbalanced chromosome complement in gametes
D) Loss of chromosomal material in somatic cells during mitosis
E) Robertsonian translocations are generally benign
Answer: C
Q2) Due to differences in male and female meiosis,advanced paternal age effect is more likely to be associated with what type of mutation?
A) Chromosome abnormalities
B) Translocations
C) De novo dominant mutations
D) Aneuploidies
E) Fragile sites
Answer: C
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Chapter 4: Dna Technology and Applications
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Sample Questions
Q1) What is the advantage of using a VNTR over SNP as a genetic marker?
A) There are more VNTRs in the genome
B) VNTRs are less variable
C) There are generally more alleles for each VNTR than for each SNP
D) VNTRs are located within genes
E) VNTRs are more likely to be mutations rather than polymorphisms
Q2) Which type of marker is used for DNA fingerprinting?
A) SNP
B) Microsatellite
C) Indel
D) Minisatellite
E) Copy number variant
Q3) Why are dideoxynucleotides added to the reaction in the Sanger sequencing methodology?
A) They label the DNA strands
B) They cause termination of the replicating strand
C) They allow longer processivity of the DNA polymerase
D) They cement the newly synthesized strand to the template strand
E) There is a lower chance of mutation during the sequencing reaction
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Page 6
Chapter 5: Mapping and Identifying Genes for Monogenic Disorders
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Sample Questions
Q1) The human genome contains approximately how many base pairs of DNA?
A) 3 x 10
B) 3 x 10
C) 3 x 10
D) 3 x 10
E) 3 x 10¹
Q2) What is a contig?
A) A series of genetic markers across a genome
B) A series of markers across a chromosome
C) A series of clones with overlapping DNA that spans a particular genetic region
D) A series of clones from a variety of individuals that represent that same genetic region
E) A series of clones from a variety of organisms that represent syntenic regions
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7
Chapter 6: Developmental Genetics
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Sample Questions
Q1) Proteins that contain a zinc finger motif share what function?
A) Kinase
B) Phosphatase
C) Protease
D) Transcription factor
E) Inducers of apoptosis
Q2) An infertile female is found to have a 46,XY karyotype.Within which region is she likely to have a mutation or deletion?
A) Pseudoautosomal region
B) SRY
C) XIST
D) One of the AZF regions
E) DAZ
Q3) Which of the following is a phenotype associated with mutations in the sonic hedgehog signaling pathway?
A) Holoprosencephaly
B) Osteogenesis imperfecta
C) Primary sex reversal
D) Spina bifida
E) All of the above
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Chapter 7: Patterns of Inheritance
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Sample Questions
Q1) Which term is used to describe a disorder that occurs only in individuals of a particular sex?
A) Sex-influenced
B) Y-linked
C) X-linked
D) Sex-limited
E) Sex-determined
Q2) Which of the following terms is used to describe the fact that mutations in a single gene can have more than one phenotypic effect?
A) Pleiotropy
B) Variable expressivity
C) Variable penetrance
D) Heteroplasmy
E) Mosaicism
Q3) Which of the following is the molecular explanation for genetic anticipation?
A) Mitochondrial mutations
B) Heteroplasmy
C) Trinucleotide repeat expansions
D) Skewed X-inactivation
E) Mutational selection
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Chapter 8: Population and Mathematical Genetics
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Sample Questions
Q1) To search for loci involved in autosomal recessive diseases,which alternative approach to a traditional linkage analysis can be used?
A) Look for shared alleles between affected families
B) Look for shared regions of deletion between affected families
C) Look for regions of homozygosity in affected families
D) Look for uniparental heterodisomy
E) Look for uniparental homodisomy
Q2) How are the LOD scores from multiple affected families combined?
A) Added
B) Subtracted
C) Averaged
D) Multiplied
E) They cannot be combined
Q3) Which of the following can disturb Hardy-Weinberg equilibrium?
A) Assortative mating
B) Natural selection
C) Population bottleneck
D) A small population size
E) All of the above
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Page 10
Chapter 9: Polygenic and Multifactorial Inheritance
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Sample Questions
Q1) For multifactorial traits,how would the liability threshold model predict that a second affected child in a family would alter risk estimates for future pregnancies?
A) The risk estimate would increase
B) The risk estimate would decrease
C) The risk estimate would remain the same
D) The chances would be exceedingly small that there would be a third affected child
Q2) One goal of the International HapMap project is to identify which of the following?
A) Large families for linkage analysis
B) The complete set of SNPs in the human population
C) A genome-wide set of tag SNPs
D) All possible haplotypes in the human population
E) The complete genome sequence in a set of individuals from various regions of the world
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Chapter 10: Hemoglobin and the Hemoglobinopathies
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Sample Questions
Q1) The complete absence of a globin production gives rise to which phenotype?
A) Sickle cell disease
B) Hb H disease
C) b-thalassemia
D) Hydrops fetalis
E) Normal adult hemoglobin production
Q2) The HbA form of hemoglobin consists of which globin chains?
A) 1 a, 1 b
B) 2 a, 2 b
C) 2 a
D) 2 a, 2 g
E) 1 a, 1 g
Q3) Which of the following statements is true of the sickle cell trait-associated form of hemoglobin,Hb S?
A) It is characterized by a relative deficiency of a chains versus b chains
B) It has increased oxygen binding affinity relative to Hb A
C) It is less soluble than Hb A
D) It is dominant to Hb A
E) Therapeutic approaches have been highly successful in alleviating phenotypes associated with Hb S
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Chapter 11: Biochemical Genetics
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Sample Questions
Q1) For which of the following disorders would prenatal genetic diagnosis be particularly difficult?
A) Cystic fibrosis
B) Down syndrome
C) Lesch-Nyhan syndrome
D) MERRF
E) Tay-Sachs disease
Q2) What pattern of inheritance is most often associated with disorders of mitochondrial function?
A) Autosomal dominant
B) Autosomal recessive
C) Maternal inheritance
D) X-linked dominant
E) X-linked recessive
Q3) What is the primary defect causing familial hypercholesterolemia?
A) Defective or deficient LDL receptors
B) Defective HMG-CoA reductase
C) Deficiency of acyltransferase
D) Deficiency of phospholipase C
E) Deficiency of hexosaminidase A
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Chapter 12: Pharmacogenetics
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Sample Questions
Q1) Which of the following should be avoided in an individual with a mutation in the ryanodine receptor RYR1?
A) Anesthesia using halothane
B) Periods of fasting
C) Isoniazid treatment
D) Chemotherapy with 5-fluorouracil
E) Alcohol consumption
Q2) For the most effective use of Herceptin in breast cancer treatment,molecular testing for which of the following proteins should be performed before the drug is prescribed?
A) BRCA1
B) BRCA2
C) HER2
D) EGFR
E) MTHFR
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14
Chapter 13: Immunogenetics
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Sample Questions
Q1) For which of the following tissues is homograft rejection not an issue?
A) Bone marrow
B) Liver
C) Kidney
D) Heart
E) Cornea
Q2) Which of the following processes is involved in immunoglobulin gene rearrangement?
A) Meiotic recombination
B) Somatic recombination
C) Nonhomologous end joining
D) Gene synapsis
E) Diakinesis
Q3) Deficiency for which of the following causes severe combined immunodeficiency syndrome?
A) Rhesus factor
B) Adenosine deaminase
C) WAS
D) CD69
E) CYP21
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Chapter 14: Cancer Genetics
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Sample Questions
Q1) In addition to mutations in the coding region and regulatory elements,oncogenes often arise by which mechanism?
A) Gene amplification
B) Loss of heterozygosity
C) Splice mutations
D) Interstitial deletions
E) Nondisjunction
Q2) Following a first mutation in a tumor suppressor gene,which of the following is commonly associated with the "second hit" in tumor generation?
A) Loss of heterozygosity
B) Fusion of two genes
C) Insertional mutagenesis
D) Gene duplication
E) Any of the above
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16
Chapter 15: Genetic Factors in Common Diseases
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Q1) If a migrant group moves from an area with a low incidence of a particular disease to an area with a high incidence of that disease and the disease incidence in that group subsequently increases to match the incidence in the second location,what does this suggest about the disease etiology?
A) It is mostly genetic
B) It is mostly environmental
C) It is caused by both genetic and environmental factors
D) It is caused by food
E) Further research needs to be done
Q2) One could best tease apart the genetic and environmental causes of a trait through comparisons of which of the following groups?
A) First-degree relatives versus second-degree relatives
B) Sisters versus brothers
C) Monozygotic versus dizygotic twins
D) Parents versus children
E) Twins versus siblings
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Chapter 16: Congenital Abnormalities and Dysmorphic Syndromes
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Q1) What causes a "sequence" of multiple abnormalities?
A) A single gene that is expressed in several tissues
B) A single disruptive force that acts in multiple areas of the body
C) A cascade of events initiating from one initial insult
D) A genetic deletion that includes multiple genes
E) Aneuploidy
Q2) Which of the following is NOT associated with teratogenic effects?
A) Folic acid consumption
B) Hyperthermia
C) Toxoplasmosis infection
D) Radiation exposure
E) Alcohol consumption
Q3) Which of the following would be considered a deformation?
A) Diaphragmatic hernia
B) Cleft lip
C) Neural tube defect
D) Club foot
E) Epicanthic folds
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Chapter 17: Genetic Counseling
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Sample Questions
Q1) If we assume that the average person carries one deleterious autosomal recessive mutation,what is the risk that the child of an uncle-niece mating will be homozygous for one of the mutations present in the parents of the child's father?
A) 1/64
B) 1/32
C) 1/16
D) 1/11
E) 1/8
Q2) Which of the following should be a feature of genetic counseling sessions?
A) A follow-up letter should be given to the consultand to help with information recall B) It should be nondirective
C) Risk figures should be conveyed in a manner that gives them context
D) Technical terms should be used sparingly and should be thoroughly defined
E) All of the above
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Chapter 18: Chromosome Disorders
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Sample Questions
Q1) Individuals with Klinefelter syndrome are usually infertile because...
A) Their testes do not descend
B) They lack sperm in their semen
C) Their sperm are nonmotile
D) They exhibit feminization of their genitalia
E) Problems with non-disjunction
Q2) Which of the following is a definite indication for chromosome analysis?
A) Multiple congenital abnormalities
B) Diaphragmatic hernia
C) Single palmar crease
D) Cleft lip
E) All of the above
Q3) What molecular feature of the chromosome 22q11 region leads to its propensity for deletions?
A) High GC content
B) The presence of a fragile site
C) It is flanked by low copy repeats
D) It is imprinted
E) Secondary structure of the DNA
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Page 20
Chapter 19: Single-Gene Disorders
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Sample Questions
Q1) Which of the following mutations is associated with the myotonic dystrophy phenotype?
A) A CCTG expansion 3' of ZNF9
B) A deletion in DMPK
C) A trinucleotide repeat expansion 3' of DMPK
D) A and C
E) B and C
Q2) Although deletions in the dystrophin gene cause both Duchenne and Becker muscular dystrophy,what feature is shared by the Becker MD-associated mutations?
A) They maintain the reading frame
B) They are smaller
C) They occur in the 5' region of the gene
D) They occur in the 3' region of the gene
E) They delete an alternate exon
Q3) In addition to the lungs,what other major organ is affected by cystic fibrosis?
A) Heart
B) Muscle
C) Brain
D) Pancreas
E) Kidney
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Chapter 20: Screening for Genetic Disease
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Q1) Which of the following criteria should be met for a disorder to be included in a newborn screening program?
A) The disorder must be fairly common
B) The test for the disorder must have high sensitivity
C) The test for the disorder must have high specificity
D) There must be an intervention available for the disorder
E) All of the above
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Chapter 21: Prenatal Testing and Reproductive Genetics
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Q1) Which of the following is a disadvantage of chorionic villus sampling compared to amniocentesis?
A) The need to culture cells before diagnostics can be performed
B) CVS is done later in pregnancy than amniocentesis
C) Higher rates of complication
D) Biochemical analyses cannot be performed on CVS samples
E) Fewer chromosomes can be analyzed specifically
Q2) There is evidence that children conceived as a result of artificial reproductive technologies are at greater risk of what type of disorder?
A) Aneuploidy
B) Single gene disorders
C) Imprinting disorders
D) Balanced translocations
E) Mitochondrial disorders
Q3) Which of the following is used as a prenatal screen for Down syndrome?
A) Ultrasonography for polydactyly
B) Ultrasonography for increased nuchal translucency
C) Increased maternal serum AFP
D) Ultrasonography for brain malformations
E) All of the above
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Chapter 22: Risk Calculation
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Q1) A couple would like to have 3 children,all boys.If they do,in fact,have 3 children,what is the probability that they will all be boys?
A) 1/8
B) 1/6
C) 1/4
D) 1/3
E) 1/2
Q2) A baby tests negative by newborn screening for cystic fibrosis mutations using a mutation panel that will detect 70% of mutations in this population.If there is a carrier frequency of 1/50 in this population,what is the probability that the baby is a mutation carrier?
A) 1/333
B) 1/164
C) 1/111
D) 1/71
E) 1/36
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Chapter 23: Treatment of Genetic Disease
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Q1) According to our current understanding,what makes embryonic stem cells unique compared to other stem cells?
A) They can be engineered to express exogenous DNA
B) Larger DNA segments can be expressed in them
C) They are not rejected by the immune system
D) They can differentiate into any cell type
E) If injected into the bloodstream, they will home to the appropriate location in the body
Q2) Which of the following consequences was associated with use of retroviruses in gene therapy of SCID?
A) Short half-life for the vector
B) Dangerous immune response to the vector
C) Insertional mutagenesis
D) The protein product was not expressed in the appropriate location
E) Sufficient levels of the protein product were not achieved
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25
Chapter 24: Ethical and Legal Issues in Medical Genetics
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Q1) Under what condition is it recommended that genetic testing of children be available?
A) Whenever it is requested
B) When the parents request it
C) When there is a medical benefit to the testing
D) When the parents want to know risks to future children
E) None of the above
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